Linked Data
ClinVar Variation Id:
258996
dbSNP Id:
rs2069561
ExAC:
8:133975283 G / A
gnomAD v2:
8-133975283-G-A
gnomAD v3:
8-132963038-G-A
gnomAD v4:
8-132963038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132963038G>A , CM000670.2:g.132963038G>A | GRCh38 |
| NC_000008.10:g.133975283G>A , CM000670.1:g.133975283G>A | GRCh37 |
| NC_000008.9:g.134044465G>A | NCBI36 |
| NG_015832.1:g.101079G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220616.9:c.5512G>A MANE Select | ENSP00000220616.4:p.Asp1838Asn | |
| ENST00000220616.8:c.5512G>A | ENSP00000220616.4:p.Asp1838Asn | |
| ENST00000518058.1:c.45G>A | ||
| ENST00000519178.5:c.878G>A | ||
| ENST00000523756.5:c.2167G>A | ||
| NM_003235.4:c.5512G>A | NP_003226.4:p.Asp1838Asn | |
| XM_005251038.3:c.5320G>A | XP_005251095.1:p.Asp1774Asn | |
| XM_005251040.3:c.5512G>A | XP_005251097.1:p.Asp1838Asn | |
| XM_005251042.3:c.5512G>A | XP_005251099.1:p.Asp1838Asn | |
| XM_005251043.3:c.5512G>A | XP_005251100.1:p.Asp1838Asn | |
| XM_006716622.2:c.5512G>A | XP_006716685.1:p.Asp1838Asn | |
| XM_005251038.4:c.5320G>A | XP_005251095.1:p.Asp1774Asn | |
| XM_005251040.4:c.5512G>A | XP_005251097.1:p.Asp1838Asn | |
| XM_005251042.4:c.5512G>A | XP_005251099.1:p.Asp1838Asn | |
| XM_006716622.3:c.5512G>A | XP_006716685.1:p.Asp1838Asn | |
| XM_017013793.1:c.5446G>A | XP_016869282.1:p.Asp1816Asn | |
| XM_017013794.1:c.5512G>A | XP_016869283.1:p.Asp1838Asn | |
| XM_017013795.1:c.5341G>A | XP_016869284.1:p.Asp1781Asn | |
| XM_017013796.1:c.5293G>A | XP_016869285.1:p.Asp1765Asn | |
| XM_017013797.1:c.5251G>A | XP_016869286.1:p.Asp1751Asn | |
| XM_017013798.1:c.5512G>A | XP_016869287.1:p.Asp1838Asn | |
| XM_017013799.1:c.5512G>A | XP_016869288.1:p.Asp1838Asn | |
| XM_017013800.1:c.5512G>A | XP_016869289.1:p.Asp1838Asn | |
| NM_003235.5:c.5512G>A MANE Select | NP_003226.4:p.Asp1838Asn |